Linked Data
ClinVar Variation Id:
325748
dbSNP Id:
rs773033304
ExAC:
17:78073390 G / A
gnomAD v2:
17-78073390-G-A
gnomAD v3:
17-80099591-G-A
gnomAD v4:
17-80099591-G-A
COSMIC:
COSM3370955
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80099591G>A , CM000679.2:g.80099591G>A | GRCh38 |
| NC_000017.10:g.78073390G>A , CM000679.1:g.78073390G>A | GRCh37 |
| NC_000017.9:g.75687985G>A | NCBI36 |
| NG_009822.1:g.3036G>A , LRG_673:g.3036G>A | |
| NG_029761.1:g.67960G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.3245G>A MANE Select | ENSP00000380679.4:p.Arg1082His | |
| ENST00000397545.8:c.3245G>A | ENSP00000380679.4:p.Arg1082His | |
| ENST00000574799.5:n.2782G>A | ||
| NM_017950.3:c.3245G>A | NP_060420.2:p.Arg1082His | |
| XM_011524963.1:c.3155G>A | XP_011523265.1:p.Arg1052His | |
| XM_011524964.1:c.2066G>A | XP_011523266.1:p.Arg689His | |
| XM_011524963.3:c.3155G>A | XP_011523265.1:p.Arg1052His | |
| XM_011524964.3:c.2066G>A | XP_011523266.1:p.Arg689His | |
| XM_024450821.1:c.3155G>A | XP_024306589.1:p.Arg1052His | |
| XR_934495.2:n.3363G>A | ||
| NM_017950.4:c.3245G>A MANE Select | NP_060420.2:p.Arg1082His |